Canonical Allele Identifier: CA1139663156

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 988019
• ClinVar RCV Id: RCV001269411
• dbSNP Id: rs2072908679

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379804del , CM000675.2:g.32379804del	GRCh38
NC_000013.10:g.32953941del , CM000675.1:g.32953941del	GRCh37
NC_000013.9:g.31851941del	NCBI36
NG_012772.3:g.69325del , LRG_293:g.69325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9008del	ENSP00000434898.2:p.Gly3003GlufsTer25
ENST00000528762.2:c.*375del	ENSP00000433168.2:n.*375del
ENST00000530893.7:c.8639del	ENSP00000499438.2:p.Gly2880GlufsTer25
ENST00000665585.2:c.*570del	ENSP00000499570.2:n.*570del
ENST00000666593.2:c.9008del	ENSP00000499256.2:p.Gly3003GlufsTer25
ENST00000700202.2:c.8957del	ENSP00000514856.2:p.Gly2986GlufsTer25
ENST00000700202.1:c.1424del	ENSP00000514856.1:p.Gly475GlufsTer25
ENST00000700203.1:n.1135del
ENST00000380152.8:c.9008del MANE Select	ENSP00000369497.3:p.Gly3003GlufsTer25
ENST00000544455.6:c.9008del	ENSP00000439902.1:p.Gly3003GlufsTer25
ENST00000614259.2:c.9016del	ENSP00000506251.1:n.9016del
ENST00000665585.1:c.1886del
ENST00000680887.1:c.9008del	ENSP00000505508.1:p.Gly3003GlufsTer25
ENST00000380152.7:c.9008del	ENSP00000369497.3:p.Gly3003GlufsTer25
ENST00000544455.5:c.9008del	ENSP00000439902.1:p.Gly3003GlufsTer25
NM_000059.3:c.9008del , LRG_293t1:c.9008del	NP_000050.2:p.Gly3003GlufsTer25
XM_011535203.1:c.9008del	XP_011533505.1:p.Gly3003GlufsTer25
XM_011535204.1:c.8912del	XP_011533506.1:p.Gly2971GlufsTer25
XM_011535205.1:c.*46del	XP_011533507.1:n.*46del
NM_000059.4:c.9008del MANE Select	NP_000050.3:p.Gly3003GlufsTer25